ClinVar Miner

List of variants in gene RAD50 reported by Sema4, Sema4

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_005732.4(RAD50):c.3165-8T>G rs369581851 0.00189
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 0.00042
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00036
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_005732.4(RAD50):c.2288G>A (p.Arg763His) rs141989813 0.00026
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala) rs28903093 0.00020
NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu) rs199895166 0.00017
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020 0.00009
NM_005732.4(RAD50):c.3327T>G (p.Ile1109Met) rs587781940 0.00008
NM_005732.4(RAD50):c.130-10A>G rs200760698 0.00006
NM_005732.4(RAD50):c.1556G>T (p.Arg519Leu) rs140333740 0.00006
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) rs201120953 0.00006
NM_005732.4(RAD50):c.2658A>G (p.Gln886=) rs768654795 0.00006
NM_005732.4(RAD50):c.3342A>G (p.Thr1114=) rs776513888 0.00006
NM_005732.4(RAD50):c.426T>C (p.Ser142=) rs368752746 0.00005
NM_005732.4(RAD50):c.1602A>G (p.Thr534=) rs150348197 0.00004
NM_005732.4(RAD50):c.2046C>T (p.Pro682=) rs759476003 0.00004
NM_005732.4(RAD50):c.2047G>A (p.Val683Ile) rs367925756 0.00004
NM_005732.4(RAD50):c.2203A>C (p.Met735Leu) rs144890318 0.00004
NM_005732.4(RAD50):c.511G>T (p.Ala171Ser) rs143483210 0.00004
NM_005732.4(RAD50):c.1992A>G (p.Ala664=) rs773126534 0.00002
NM_005732.4(RAD50):c.2113C>T (p.Leu705=) rs779776271 0.00002
NM_005732.4(RAD50):c.2298C>T (p.Asn766=) rs144186349 0.00002
NM_005732.4(RAD50):c.673G>A (p.Asp225Asn) rs587780159 0.00002
NM_005732.4(RAD50):c.129+5G>A rs587781409 0.00001
NM_005732.4(RAD50):c.1484G>A (p.Ser495Asn) rs1060501967 0.00001
NM_005732.4(RAD50):c.1794-1G>A rs587781742 0.00001
NM_005732.4(RAD50):c.2314G>A (p.Glu772Lys) rs587782899 0.00001
NM_005732.4(RAD50):c.3061A>G (p.Asn1021Asp) rs786202957 0.00001
NM_005732.4(RAD50):c.3068C>T (p.Thr1023Ile) rs755608245 0.00001
NM_005732.4(RAD50):c.3191T>C (p.Ile1064Thr) rs780264599 0.00001
NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile) rs769003601 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
NM_005732.4(RAD50):c.578G>A (p.Arg193Gln) rs776046799 0.00001
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) rs769853458 0.00001
NM_005732.4(RAD50):c.757-12C>A rs1427073290 0.00001
NM_005732.4(RAD50):c.886-11G>T rs562817115 0.00001
NM_005732.4(RAD50):c.915T>C (p.Asn305=) rs759379314 0.00001
NM_005732.4(RAD50):c.1088A>G (p.His363Arg) rs143654104
NM_005732.4(RAD50):c.1115A>C (p.Gln372Pro) rs375070140
NM_005732.4(RAD50):c.1132C>A (p.Leu378Ile) rs786202509
NM_005732.4(RAD50):c.1143T>C (p.Asp381=) rs1750643562
NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs) rs786203655
NM_005732.4(RAD50):c.1284G>A (p.Gln428=) rs786201152
NM_005732.4(RAD50):c.1692C>G (p.Thr564=) rs876660850
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.1948G>A (p.Glu650Lys) rs876658686
NM_005732.4(RAD50):c.2095_2113dup (p.Leu705delinsGlnTer) rs1750779319
NM_005732.4(RAD50):c.2108C>G (p.Ser703Cys) rs769143998
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2317A>G (p.Thr773Ala) rs762093973
NM_005732.4(RAD50):c.287T>C (p.Val96Ala) rs1554097576
NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs) rs587780154
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005732.4(RAD50):c.351C>A (p.Val117=) rs878854800
NM_005732.4(RAD50):c.363A>G (p.Thr121=) rs1750390315
NM_005732.4(RAD50):c.366-13T>A rs774557401
NM_005732.4(RAD50):c.36G>A (p.Val12=) rs1580974379
NM_005732.4(RAD50):c.548C>T (p.Thr183Ile) rs1554097784
NM_005732.4(RAD50):c.552-2A>C rs1060501970
NM_005732.4(RAD50):c.829A>G (p.Ser277Gly) rs1580991879
NM_005732.4(RAD50):c.973T>C (p.Cys325Arg) rs863224744

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